MSD
MCID: MLT135
MIFTS: 54

Multiple Sulfatase Deficiency (MSD)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Multiple Sulfatase Deficiency

MalaCards integrated aliases for Multiple Sulfatase Deficiency:

Name: Multiple Sulfatase Deficiency 57 76 53 25 59 75 37 29 13 55 6
Mucosulfatidosis 57 12 76 53 25 59 75 15
Msd 57 53 25 59 75
Multiple Sulfatase Deficiency Disease 12 44 73
Sulfatidosis, Juvenile, Austin Type 57 12 73
Juvenile Sulfatidosis, Austin Type 25 59
Sulfatidosis Juvenile, Austin Type 53
Sulfatidosis Juvenile Austin Type 75
Sulfatase Deficiency, Multiple 40
Juvenile Sulfatidosis 53
Austin Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
multiple sulfatase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in the first 4 years of life
neonatal and late-infantile onset
later onset is associated with slower progression and lesser severity


HPO:

32
multiple sulfatase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Multiple Sulfatase Deficiency

OMIM : 57 Multiple sulfatase deficiency is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. The enzymatic defect affects the whole family of sulfatase enzymes; thus, the disorder combines features of metachromatic leukodystrophy (250100) and of various mucopolysaccharidoses (see, e.g., MPS6; 253200). Affected individuals show neurologic deterioration with mental retardation, skeletal anomalies, organomegaly, and ichthyosis. Different types of MSD can be distinguished according to the age of onset: neonatal, late infantile (0 to 2 years), and juvenile (2 to 4 years). Neonatal MSD is the most severe form with a broad range of mucopolysaccharidosis-like symptoms and death within the first year of life. Late-infantile MSD, which includes the majority of cases, resembles late-infantile metachromatic leukodystrophy with progressive loss of mental and motor abilities and skeletal changes. There is also an attenuated form of late-infantile MSD with onset beyond the second year of life. Rare cases of juvenile-onset MSD have been reported with onset of symptoms in late childhood and slower progression (Blanco-Aguirre et al., 2001) (summary by Schlotawa et al., 2011). (272200)

MalaCards based summary : Multiple Sulfatase Deficiency, also known as mucosulfatidosis, is related to metachromatic leukodystrophy and mucopolysaccharidosis, type vi, and has symptoms including ataxia and muscle spasticity. An important gene associated with Multiple Sulfatase Deficiency is SUMF1 (Sulfatase Modifying Factor 1), and among its related pathways/superpathways are Lysosome and Metabolism. Affiliated tissues include skin, brain and bone, and related phenotypes are macrocephaly and hydrocephalus

Disease Ontology : 12 A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has material basis in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.

Genetics Home Reference : 25 Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile.

NIH Rare Diseases : 53 Multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton. The signs and symptoms of this condition vary widely, prompting researchers to divide it into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with symptoms developing soon after birth. The late-infantile type is the most common form and usually presents as progressive loss of mental abilities and movement after a period of normal development. The juvenile type is rare, with a slow regression of psychomotor development in mid to late childhood. Life expectancy is shortened in all types. Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. It is inherited in an autosomal recessive pattern. There is no cure for multiple sulfatase deficiency. Treatment includes physical therapy and supportive services.  

UniProtKB/Swiss-Prot : 75 Multiple sulfatase deficiency: A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post- translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.

Wikipedia : 76 Multiple sulfatase deficiency (also known as "Austin disease", and "mucosulfatidosis") is a very rare... more...

Related Diseases for Multiple Sulfatase Deficiency

Diseases related to Multiple Sulfatase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 32.3 ARSA ARSB ARSH STS SUMF1
2 mucopolysaccharidosis, type vi 31.8 ARSA ARSB ARSH GALNS SUMF1
3 ichthyosis 30.1 ARSA ARSH STS
4 hydrocephalus 30.0 ARSB P4HB SUMF1
5 paine syndrome 11.2
6 microcephaly 11.2
7 carpal tunnel syndrome 11.1
8 stapes ankylosis with broad thumbs and toes 11.1
9 perrault syndrome 1 11.1
10 aminoaciduria 11.1
11 leukodystrophy 10.3
12 pelizaeus-merzbacher disease 10.2
13 differentiated thyroid carcinoma 10.2
14 gastric dilatation 10.2 ARSB ARSH
15 mucopolysaccharidosis, type iva 10.2 ARSH GALNS
16 mucopolysaccharidosis iv 10.2 ARSH GALNS
17 chondrodysplasia punctata syndrome 10.1 ARSH STS
18 ichthyosis, x-linked 10.1 ARSH STS SUMF1
19 gangliosidosis gm1 10.1 ARSA GALNS
20 inclusion-cell disease 10.1 ARSA CTSD
21 inherited metabolic disorder 10.0 ARSA GALNS NPC1
22 mucopolysaccharidosis, type ii 10.0 ARSA ARSH GALNS IDS
23 cystic fibrosis 10.0
24 retinitis pigmentosa 10.0
25 keratoconus 10.0
26 filariasis 10.0
27 onchocerciasis 10.0
28 filarial elephantiasis 10.0
29 influenza 10.0
30 mucopolysaccharidosis, type iiia 10.0 ARSH SGSH
31 al-raqad syndrome 9.9
32 ocular albinism 9.9
33 retinal degeneration 9.9
34 albinism 9.9
35 congenital hydrocephalus 9.9
36 mucopolysaccharidosis, type vii 9.9 GALNS SGSH
37 ichthyosis, congenital, autosomal recessive 1 9.9 CTSD STS
38 mucopolysaccharidosis iii 9.8 ARSH GNS SGSH SUMF1
39 lysosomal storage disease 9.6 ARSA ARSB GALNS IDS SGSH SUMF1
40 mucopolysaccharidosis-plus syndrome 9.6 ARSB ARSH GALNS GNS IDS SGSH

Graphical network of the top 20 diseases related to Multiple Sulfatase Deficiency:



Diseases related to Multiple Sulfatase Deficiency

Symptoms & Phenotypes for Multiple Sulfatase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
ataxia
spasticity
cerebellar atrophy
cerebral atrophy
more
Abdomen Liver:
hepatomegaly

Growth Height:
short stature

Skeletal:
dysostosis multiplex

Skeletal Spine:
hypoplastic vertebral bodies

Skeletal Hands:
broad thumbs
broad index fingers

Head And Neck Ears:
deafness (variable)

Abdomen Spleen:
splenomegaly

Muscle Soft Tissue:
neonatal hypotonia

Skin Nails Hair Skin:
ichthyosis

Head And Neck Face:
prominent forehead
flat face
large forehead
periorbital edema
coarse facies

Head And Neck Eyes:
retinal degeneration
corneal clouding (variable)

Head And Neck Nose:
upturned nose

Laboratory Abnormalities:
decreased activities of multiple sulfatases
urinary excretion of mucopolysaccharides
accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids


Clinical features from OMIM:

272200

Human phenotypes related to Multiple Sulfatase Deficiency:

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
6 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
7 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
10 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
11 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
12 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
13 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
14 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
15 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
16 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
17 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
18 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
19 thick eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0000574
20 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
21 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
22 coarse hair 59 32 frequent (33%) Frequent (79-30%) HP:0002208
23 abnormality of peripheral nerve conduction 59 32 hallmark (90%) Very frequent (99-80%) HP:0003134
24 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
25 rapid neurologic deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0007307
26 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
27 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
28 mucopolysacchariduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0008155
29 broad hallux phalanx 59 32 frequent (33%) Frequent (79-30%) HP:0010059
30 broad thumb 59 32 frequent (33%) Frequent (79-30%) HP:0011304
31 ataxia 32 HP:0001251
32 spasticity 32 HP:0001257
33 hearing impairment 32 HP:0000365
34 dysostosis multiplex 32 HP:0000943
35 prominent forehead 32 HP:0011220
36 flat face 32 HP:0012368
37 ventriculomegaly 32 HP:0002119
38 large forehead 32 HP:0002003
39 periorbital edema 32 HP:0100539
40 cerebellar atrophy 32 HP:0001272
41 peripheral demyelination 32 HP:0011096
42 cerebral atrophy 32 HP:0002059
43 hypoplastic vertebral bodies 32 HP:0008479
44 abnormality of the periventricular white matter 32 HP:0002518
45 increased csf protein 32 HP:0002922
46 lower limb hyperreflexia 32 HP:0002395
47 retinal degeneration 32 HP:0000546
48 broad hallux 32 HP:0010055
49 cns demyelination 32 HP:0007305

UMLS symptoms related to Multiple Sulfatase Deficiency:


ataxia, muscle spasticity

MGI Mouse Phenotypes related to Multiple Sulfatase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 ARSB CTSD GALNS GNS IDS LMAN1
2 hematopoietic system MP:0005397 9.32 ARSA ARSB CTSD GNS IDS LMAN1

Drugs & Therapeutics for Multiple Sulfatase Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200

Search NIH Clinical Center for Multiple Sulfatase Deficiency

Cochrane evidence based reviews: multiple sulfatase deficiency disease

Genetic Tests for Multiple Sulfatase Deficiency

Genetic tests related to Multiple Sulfatase Deficiency:

# Genetic test Affiliating Genes
1 Multiple Sulfatase Deficiency 29 SUMF1

Anatomical Context for Multiple Sulfatase Deficiency

MalaCards organs/tissues related to Multiple Sulfatase Deficiency:

41
Skin, Brain, Bone, Eye, Liver, Thyroid

Publications for Multiple Sulfatase Deficiency

Articles related to Multiple Sulfatase Deficiency:

(show top 50) (show all 66)
# Title Authors Year
1
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. ( 29397290 )
2018
2
The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation. ( 29479672 )
2018
3
Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation. ( 30124108 )
2018
4
Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency. ( 29048999 )
2017
5
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease. ( 28566233 )
2017
6
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency. ( 28032298 )
2017
7
A Patient With Atypical Multiple Sulfatase Deficiency. ( 26825355 )
2016
8
The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool? ( 27344646 )
2016
9
Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiency. ( 25565547 )
2015
10
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency. ( 25885655 )
2015
11
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature. ( 25818962 )
2014
12
Multiple sulfatase deficiency with neonatal manifestation. ( 25516103 )
2014
13
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey. ( 25373814 )
2014
14
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. ( 23321616 )
2013
15
Multiple sulfatase deficiency: A case series of four children. ( 24339620 )
2013
16
[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China]. ( 24484558 )
2013
17
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. ( 21224894 )
2011
18
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient. ( 19697114 )
2009
19
Neonatal manifestation of multiple sulfatase deficiency. ( 19066960 )
2009
20
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. ( 19124046 )
2009
21
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. ( 18157819 )
2008
22
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation. ( 18509892 )
2008
23
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. ( 17657823 )
2007
24
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. ( 17360554 )
2007
25
Difficulty in recognizing multiple sulfatase deficiency in an infant. ( 16510683 )
2006
26
Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation. ( 16125993 )
2005
27
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. ( 15907468 )
2005
28
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. ( 15146462 )
2004
29
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. ( 12757706 )
2003
30
[A rare genetic disease: multiple sulfatase deficiency]. ( 14648473 )
2003
31
Multiple sulfatase deficiency is caused by mutations in the gene encoding the Homo sapiens C-alpha-formyglycine-generating enzyme. ( 12757705 )
2003
32
Unusual clinical presentation in two cases of multiple sulfatase deficiency. ( 11737681 )
2001
33
[Multiple sulfatase deficiency]. ( 9645088 )
1998
34
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies. ( 9880143 )
1998
35
Ichthyosis: the skin manifestation of multiple sulfatase deficiency. ( 9336808 )
1997
36
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. ( 7628016 )
1995
37
Cervical cord compression and severe hydrocephalus in a child with Saudi variant of multiple sulfatase deficiency. Report of case. ( 7709780 )
1994
38
Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs. ( 1348358 )
1992
39
Saudi variant of multiple sulfatase deficiency. ( 1588009 )
1992
40
Multiple sulfatase deficiency with early severe retinal degeneration. ( 1875023 )
1991
41
Multiple sulfatase deficiency: clinical, neuropathological, ultrastructural and biochemical studies. ( 1694540 )
1990
42
Synthesis and stability of steroid sulfatase in fibroblasts from multiple sulfatase deficiency. ( 3165268 )
1988
43
Multiple sulfatase deficiency. ( 2899861 )
1988
44
Multiple sulfatase deficiency with a novel biochemical presentation. ( 2903054 )
1988
45
Multiple sulfatase deficiency: bridge between neuronal storage diseases and leukodystrophies. ( 2974530 )
1988
46
Pathochemistry, pathogenesis and enzyme replacement in multiple-sulfatase deficiency. ( 2894304 )
1987
47
Rapid degradation of steroid sulfatase in multiple sulfatase deficiency. ( 3083810 )
1986
48
Synthesis and stability of arylsulfatase A and B in fibroblasts from multiple sulfatase deficiency. ( 2863138 )
1985
49
Multiple sulfatase deficiency: degradation of arylsulfatase A and B after endocytosis in fibroblasts. ( 2863139 )
1985
50
Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy. ( 6470909 )
1984

Variations for Multiple Sulfatase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Multiple Sulfatase Deficiency:

75 (show all 16)
# Symbol AA change Variation ID SNP ID
1 SUMF1 p.Ser155Pro VAR_016053 rs137852850
2 SUMF1 p.Cys218Tyr VAR_016054 rs137852854
3 SUMF1 p.Ala279Val VAR_016055 rs137852849
4 SUMF1 p.Cys336Arg VAR_016056 rs137852848
5 SUMF1 p.Arg345Cys VAR_016057 rs137852852
6 SUMF1 p.Ala348Pro VAR_016058 rs137852853
7 SUMF1 p.Arg349Gln VAR_016059 rs137852847
8 SUMF1 p.Arg349Trp VAR_016060 rs137852846
9 SUMF1 p.Leu20Phe VAR_019050 rs200142963
10 SUMF1 p.Ala177Pro VAR_019051
11 SUMF1 p.Arg224Trp VAR_019052 rs759888604
12 SUMF1 p.Asn259Ile VAR_019053 rs764215221
13 SUMF1 p.Pro266Leu VAR_019054 rs763243827
14 SUMF1 p.Trp179Ser VAR_042602 rs757323641
15 SUMF1 p.Gly247Arg VAR_080468
16 SUMF1 p.Gly263Val VAR_080469

ClinVar genetic disease variations for Multiple Sulfatase Deficiency:

6 (show top 50) (show all 145)
# Gene Variation Type Significance SNP ID Assembly Location
1 SUMF1 NM_182760.3(SUMF1): c.519+5_519+8delGTAA deletion Pathogenic rs775324176 GRCh37 Chromosome 3, 4490942: 4490945
2 SUMF1 NM_182760.3(SUMF1): c.519+5_519+8delGTAA deletion Pathogenic rs775324176 GRCh38 Chromosome 3, 4449258: 4449261
3 SUMF1 NM_182760.3(SUMF1): c.1076C> A (p.Ser359Ter) single nucleotide variant Pathogenic rs137852844 GRCh37 Chromosome 3, 4403877: 4403877
4 SUMF1 NM_182760.3(SUMF1): c.1076C> A (p.Ser359Ter) single nucleotide variant Pathogenic rs137852844 GRCh38 Chromosome 3, 4362193: 4362193
5 SUMF1 NM_182760.3(SUMF1): c.979C> T (p.Arg327Ter) single nucleotide variant Pathogenic rs137852845 GRCh37 Chromosome 3, 4418049: 4418049
6 SUMF1 NM_182760.3(SUMF1): c.979C> T (p.Arg327Ter) single nucleotide variant Pathogenic rs137852845 GRCh38 Chromosome 3, 4376365: 4376365
7 SUMF1 NM_182760.3(SUMF1): c.1045C> T (p.Arg349Trp) single nucleotide variant Pathogenic rs137852846 GRCh37 Chromosome 3, 4403908: 4403908
8 SUMF1 NM_182760.3(SUMF1): c.1045C> T (p.Arg349Trp) single nucleotide variant Pathogenic rs137852846 GRCh38 Chromosome 3, 4362224: 4362224
9 SUMF1 NM_182760.3(SUMF1): c.1046G> A (p.Arg349Gln) single nucleotide variant Pathogenic rs137852847 GRCh37 Chromosome 3, 4403907: 4403907
10 SUMF1 NM_182760.3(SUMF1): c.1046G> A (p.Arg349Gln) single nucleotide variant Pathogenic rs137852847 GRCh38 Chromosome 3, 4362223: 4362223
11 SUMF1 NM_182760.3(SUMF1): c.1006T> C (p.Cys336Arg) single nucleotide variant Pathogenic rs137852848 GRCh37 Chromosome 3, 4418022: 4418022
12 SUMF1 NM_182760.3(SUMF1): c.1006T> C (p.Cys336Arg) single nucleotide variant Pathogenic rs137852848 GRCh38 Chromosome 3, 4376338: 4376338
13 SUMF1 NM_001164675.1(SUMF1): c.836C> T (p.Ala279Val) single nucleotide variant Conflicting interpretations of pathogenicity rs137852849 GRCh37 Chromosome 3, 4458816: 4458816
14 SUMF1 NM_001164675.1(SUMF1): c.836C> T (p.Ala279Val) single nucleotide variant Conflicting interpretations of pathogenicity rs137852849 GRCh38 Chromosome 3, 4417132: 4417132
15 SUMF1 SUMF1, 1-BP DEL, 243C deletion Pathogenic
16 SUMF1 NM_182760.3(SUMF1): c.661delG (p.Ala221Glnfs) deletion Pathogenic rs770241913 GRCh37 Chromosome 3, 4459758: 4459758
17 SUMF1 NM_182760.3(SUMF1): c.661delG (p.Ala221Glnfs) deletion Pathogenic rs770241913 GRCh38 Chromosome 3, 4418074: 4418074
18 SUMF1 NM_182760.3(SUMF1): c.463T> C (p.Ser155Pro) single nucleotide variant Pathogenic/Likely pathogenic rs137852850 GRCh37 Chromosome 3, 4491006: 4491006
19 SUMF1 NM_182760.3(SUMF1): c.463T> C (p.Ser155Pro) single nucleotide variant Pathogenic/Likely pathogenic rs137852850 GRCh38 Chromosome 3, 4449322: 4449322
20 SUMF1 NM_182760.3(SUMF1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs137852851 GRCh37 Chromosome 3, 4508928: 4508928
21 SUMF1 NM_182760.3(SUMF1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs137852851 GRCh38 Chromosome 3, 4467244: 4467244
22 SUMF1 SUMF1, 1-BP DEL, 276C deletion Pathogenic
23 SUMF1 NM_182760.3(SUMF1): c.1033C> T (p.Arg345Cys) single nucleotide variant Pathogenic rs137852852 GRCh37 Chromosome 3, 4403920: 4403920
24 SUMF1 NM_182760.3(SUMF1): c.1033C> T (p.Arg345Cys) single nucleotide variant Pathogenic rs137852852 GRCh38 Chromosome 3, 4362236: 4362236
25 SUMF1 NM_182760.3(SUMF1): c.1042G> C (p.Ala348Pro) single nucleotide variant Pathogenic rs137852853 GRCh37 Chromosome 3, 4403911: 4403911
26 SUMF1 NM_182760.3(SUMF1): c.1042G> C (p.Ala348Pro) single nucleotide variant Pathogenic rs137852853 GRCh38 Chromosome 3, 4362227: 4362227
27 SUMF1 NM_182760.3(SUMF1): c.653G> A (p.Cys218Tyr) single nucleotide variant Pathogenic rs137852854 GRCh37 Chromosome 3, 4459766: 4459766
28 SUMF1 NM_182760.3(SUMF1): c.653G> A (p.Cys218Tyr) single nucleotide variant Pathogenic rs137852854 GRCh38 Chromosome 3, 4418082: 4418082
29 SUMF1 SUMF1, IVS5AS, 1-BP DEL, -2A deletion Pathogenic
30 SUMF1 NM_182760.3(SUMF1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs137852855 GRCh37 Chromosome 3, 4508929: 4508929
31 SUMF1 NM_182760.3(SUMF1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs137852855 GRCh38 Chromosome 3, 4467245: 4467245
32 SUMF1 NM_182760.3(SUMF1): c.788G> T (p.Gly263Val) single nucleotide variant Pathogenic rs387906976 GRCh37 Chromosome 3, 4458864: 4458864
33 SUMF1 NM_182760.3(SUMF1): c.788G> T (p.Gly263Val) single nucleotide variant Pathogenic rs387906976 GRCh38 Chromosome 3, 4417180: 4417180
34 SUMF1 NM_182760.3(SUMF1): c.*10A> G single nucleotide variant Benign rs35083095 GRCh37 Chromosome 3, 4403818: 4403818
35 SUMF1 NM_182760.3(SUMF1): c.*10A> G single nucleotide variant Benign rs35083095 GRCh38 Chromosome 3, 4362134: 4362134
36 SUMF1 NM_182760.3(SUMF1): c.*11A> T single nucleotide variant Benign rs2633851 GRCh37 Chromosome 3, 4403817: 4403817
37 SUMF1 NM_182760.3(SUMF1): c.*11A> T single nucleotide variant Benign rs2633851 GRCh38 Chromosome 3, 4362133: 4362133
38 SUMF1 NM_182760.3(SUMF1): c.1116T> C (p.Thr372=) single nucleotide variant Benign rs2633852 GRCh37 Chromosome 3, 4403837: 4403837
39 SUMF1 NM_182760.3(SUMF1): c.1116T> C (p.Thr372=) single nucleotide variant Benign rs2633852 GRCh38 Chromosome 3, 4362153: 4362153
40 SUMF1 NM_182760.3(SUMF1): c.337G> A (p.Glu113Lys) single nucleotide variant Pathogenic rs1085307107 GRCh37 Chromosome 3, 4494667: 4494667
41 SUMF1 NM_182760.3(SUMF1): c.337G> A (p.Glu113Lys) single nucleotide variant Pathogenic rs1085307107 GRCh38 Chromosome 3, 4452983: 4452983
42 SUMF1 NM_182760.3(SUMF1): c.841-14G> A single nucleotide variant Benign/Likely benign rs9852367 GRCh37 Chromosome 3, 4452676: 4452676
43 SUMF1 NM_182760.3(SUMF1): c.841-14G> A single nucleotide variant Benign/Likely benign rs9852367 GRCh38 Chromosome 3, 4410992: 4410992
44 SUMF1 NM_182760.3(SUMF1): c.188G> A (p.Ser63Asn) single nucleotide variant Benign rs2819590 GRCh38 Chromosome 3, 4467058: 4467058
45 SUMF1 NM_182760.3(SUMF1): c.188G> A (p.Ser63Asn) single nucleotide variant Benign rs2819590 GRCh37 Chromosome 3, 4508742: 4508742
46 SUMF1 NM_182760.3(SUMF1): c.*976A> G single nucleotide variant Uncertain significance rs886058510 GRCh38 Chromosome 3, 4361168: 4361168
47 SUMF1 NM_182760.3(SUMF1): c.*976A> G single nucleotide variant Uncertain significance rs886058510 GRCh37 Chromosome 3, 4402852: 4402852
48 SUMF1 NM_182760.3(SUMF1): c.*578C> G single nucleotide variant Uncertain significance rs886058515 GRCh38 Chromosome 3, 4361566: 4361566
49 SUMF1 NM_182760.3(SUMF1): c.*578C> G single nucleotide variant Uncertain significance rs886058515 GRCh37 Chromosome 3, 4403250: 4403250
50 SUMF1 NM_182760.3(SUMF1): c.891C> T (p.Asn297=) single nucleotide variant Uncertain significance rs143754187 GRCh38 Chromosome 3, 4410928: 4410928

Expression for Multiple Sulfatase Deficiency

Search GEO for disease gene expression data for Multiple Sulfatase Deficiency.

Pathways for Multiple Sulfatase Deficiency

Pathways related to Multiple Sulfatase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Lysosome hsa04142

GO Terms for Multiple Sulfatase Deficiency

Cellular components related to Multiple Sulfatase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.97 ARSA ERP44 LMAN1 NPC1 P4HB PDIA2
2 lysosome GO:0005764 9.81 ARSA ARSB CTSD GALNS GNS IDS
3 azurophil granule lumen GO:0035578 9.67 ARSA ARSB GALNS GNS
4 ficolin-1-rich granule lumen GO:1904813 9.63 ARSB CTSD GNS
5 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 9.61 ERP44 LMAN1 P4HB
6 lysosomal lumen GO:0043202 9.5 ARSA ARSB CTSD GALNS GNS IDS
7 endoplasmic reticulum lumen GO:0005788 9.28 ARSA ARSB ARSH ERP44 P4HB PDIA2
8 extracellular region GO:0005576 10.06 ARSA ARSB CTSD ERP44 GALNS GNS
9 extracellular exosome GO:0070062 10 ARSA ARSB CTSD ERP44 GALNS GNS

Biological processes related to Multiple Sulfatase Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.7 ARSA ARSB NPC1
2 protein folding GO:0006457 9.67 ERP44 LMAN1 P4HB PDIA2
3 neutrophil degranulation GO:0043312 9.63 ARSA ARSB CTSD ERP44 GALNS GNS
4 response to endoplasmic reticulum stress GO:0034976 9.61 ERP44 P4HB PDIA2
5 chondroitin sulfate catabolic process GO:0030207 9.51 ARSB IDS
6 lysosomal transport GO:0007041 9.49 ARSB NPC1
7 keratan sulfate catabolic process GO:0042340 9.48 GALNS GNS
8 response to pH GO:0009268 9.46 ARSA ARSB
9 glycosaminoglycan catabolic process GO:0006027 9.43 GNS IDS SGSH
10 response to methylmercury GO:0051597 9.4 ARSA ARSB
11 regulation of oxidative stress-induced intrinsic apoptotic signaling pathway GO:1902175 9.32 P4HB PDIA2
12 cell redox homeostasis GO:0045454 9.26 ERP44 P4HB PDIA2 TXN
13 glycosphingolipid metabolic process GO:0006687 8.92 ARSA STS SUMF1 SUMF2

Molecular functions related to Multiple Sulfatase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.97 ARSA ARSB ARSH CTSD GALNS GNS
2 peptidyl-proline 4-dioxygenase activity GO:0031545 9.43 P4HB PDIA2
3 protein disulfide isomerase activity GO:0003756 9.43 ERP44 P4HB PDIA2
4 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.37 ARSB GALNS
5 arylsulfatase activity GO:0004065 9.33 ARSA ARSB ARSH
6 sulfuric ester hydrolase activity GO:0008484 9.23 ARSA ARSB ARSH GALNS GNS IDS
7 peptide disulfide oxidoreductase activity GO:0015037 9.13 P4HB PDIA2 TXN
8 metal ion binding GO:0046872 10.14 ARSA ARSB ARSH GALNS GNS IDS

Sources for Multiple Sulfatase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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